Canonical Allele Identifier: CA1788130502

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865457A= , CM000670.2:g.60865457A=	GRCh38
NC_000008.10:g.61778016A= , CM000670.1:g.61778016A=	GRCh37
NC_000008.9:g.61940570A=	NCBI36
NG_007009.1:g.191678A= , LRG_176:g.191678A=

Transcript Alleles

HGVS	Amino-acid Change
NM_017780.4:c.8518A= MANE Select	NP_060250.2:p.Thr2840=
ENST00000423902.7:c.8518A= MANE Select	ENSP00000392028.1:p.Thr2840=
NM_001316690.1:c.2371A=	NP_001303619.1:p.Thr791=
NM_017780.3:c.8518A=	NP_060250.2:p.Thr2840=
ENST00000423902.6:c.8518A=	ENSP00000392028.1:p.Thr2840=
ENST00000524602.5:c.2371A=	ENSP00000437061.1:p.Thr791=
ENST00000528280.1:n.564A=
ENST00000695850.1:n.1694A=
ENST00000695852.1:n.625A=
ENST00000695853.1:c.*1577A=	ENSP00000512218.1:n.*1577A=
XM_011517553.1:c.8608A=	XP_011515855.1:p.Thr2870=
XM_011517553.2:c.8608A=	XP_011515855.1:p.Thr2870=
XM_011517554.1:c.8608A=	XP_011515856.1:p.Thr2870=
XM_011517554.3:c.8608A=	XP_011515856.1:p.Thr2870=
XM_011517555.1:c.8605A=	XP_011515857.1:p.Thr2869=
XM_011517555.2:c.8605A=	XP_011515857.1:p.Thr2869=
XM_011517556.1:c.8386A=	XP_011515858.1:p.Thr2796=
XM_011517557.1:c.6595A=	XP_011515859.1:p.Thr2199=
XM_011517558.1:c.6145A=	XP_011515860.1:p.Thr2049=
XM_011517559.1:c.5353A=	XP_011515861.1:p.Thr1785=
XM_017013612.1:c.8608A=	XP_016869101.1:p.Thr2870=
XM_017013613.1:c.8515A=	XP_016869102.1:p.Thr2839=